All variants in the COL1A2 gene


Osteogenesis Imperfecta Variant Database

Information The variants shown are described using the NM_000089.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Legacy protein change     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) - - ACMG pathogenic (dominant) g.94055771G>A g.94426459G>A - - COL1A2_000115 ACMG PS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - Yousuke Higuchi
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) - - ACMG pathogenic (dominant) g.94055771G>A g.94426459G>A - - COL1A2_000115 ACMG PS1 PS3 PubMed: Higuchi 2021, Journal: Higuchi 2021 - - Germline - - - - - Yousuke Higuchi
+/. 46 c.3034G>A r.(?) p.(Gly1012Ser) - - - pathogenic (dominant) g.94055771G>A g.94426459G>A - - COL1A2_000115 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/. 46 c.3034G>A r.(?) p.(Gly1012Ser) - - - pathogenic (dominant) g.94055771G>A g.94426459G>A - - COL1A2_000115 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - Johan den Dunnen
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72659319 Unknown - - - - - Peter Byers
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Byers, personal communication) - rs72659319 Unknown - - - - - Peter Byers
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Nuytinck and De Paepe, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (De Paepe, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Marini and Barnesication, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Marini and Cabral, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Lund, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication) - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Marini et al., 1993 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Sztrolovics et al., 1993 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Forlino et al., 1997 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Hartikka et al., 2004 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Lee et al., 2006 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Margherita Maioli
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Isabel Mandy Nesbitt
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Sofie Symoens
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Sofie Symoens
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Yanqin Lu
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Yanqin Lu
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Yanqin Lu
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - - - rs72659319 Unknown - - - - - Xue Bai
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Lindahl et al., 2015 - rs72659319 Unknown - - - - - Katarina Lindahl
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Stephen et al., 2015 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/? 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - VUS g.94055771G>A - - - COL1A2_000115 - PubMed: Essawi 2018, Journal: Essawi 2018 - rs72659319 Unknown - - - - - Sofie Symoens
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Ho Duy et al., 2016 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Li 2019, Journal: Li 2019 - rs72659319 Unknown - - - - - Xiuli Zhao
+/+ 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Mohd Nawawi et al., 2018 - rs72659319 Unknown - - - - - Raymond Dalgleish
+/? 46 c.3034G>A r.(?) p.(Gly1012Ser) missense Gly922Ser - VUS g.94055771G>A - - - COL1A2_000115 - PubMed: Zhytnik 2019, PubMed: Zhytnik 2020 - rs72659319 Germline/De novo (untested) - - - - - Lidiia Zhytnik
+/. 46 c.3034G>A r.(?) p.(Gly1012Ser) - - ACMG pathogenic (dominant) g.94055771G>A g.94426459G>A - - COL1A2_000115 - Mazzeu 2022, unpublished - - Germline - - - - - Juliana Mazzeu
+/. 46 c.3034G>A r.(?) p.(Gly1012Ser) - - ACMG pathogenic (dominant) g.94055771G>A g.94426459G>A - - COL1A2_000115 - Mazzeu 2022, unpublished - - Germline - - - - - Juliana Mazzeu
+/. - c.3034G>A r.(?) p.(Gly1012Ser) missense - - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Nadyrshina 2022 - - Germline - - - - - Kim Worring
+/. - c.3034G>A r.(?) p.(Gly1012Ser) missense - - pathogenic g.94055771G>A - - - COL1A2_000115 - PubMed: Nadyrshina 2022 - - Germline - - - - - Kim Worring
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